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HIES
MCID: HYP458
MIFTS: 52

Hyper Ige Syndrome (HIES)

Categories: Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyper Ige Syndrome

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MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 54
Hyper-Ige Syndrome 38 30 56 6
Hyper-Ige Recurrent Infection Syndrome 54
Hyperimmunoglobulin E Syndrome 54
Hartnup Disease 74
Job Syndrome 74
H Disease 56
Hies 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

KEGG 38 H01968
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Summaries for Hyper Ige Syndrome

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NIH Rare Diseases : 54 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to dermatitis and orofacial granulomatosis, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Posaconazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and t cells, and related phenotypes are cellular and hematopoietic system

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Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 791)
# Related Disease Score Top Affiliating Genes
1 dermatitis 30.1 IFNG IGHE IL4 STAT3
2 orofacial granulomatosis 30.0 IFNG IL4
3 dermatitis, atopic 30.0 IFNG IGHE IL4 IL4R
4 folliculitis 29.9 IFNG IL4
5 poliomyelitis 29.5 IFNG IL4
6 aspergillosis 29.5 IFNG IL4 TLR2
7 otitis media 29.3 IGHE IL4 TLR2
8 asthma 29.3 IFNG IGHE IL4 IL4R
9 renal cell carcinoma, nonpapillary 29.3 IFNG IL4 IL4R
10 autoimmune disease 29.3 IFNG IL4 STAT3
11 acute graft versus host disease 29.2 IFNG IL4
12 echinococcosis 29.1 IFNG TLR2
13 schistosomiasis 29.1 IFNG IGHE IL4
14 aplastic anemia 29.0 IFNG IL4 STAT3
15 bronchiolitis 29.0 IFNG IGHE IL4 IL4R
16 allergic asthma 29.0 IFNG IGHE IL4 IL4R
17 ige responsiveness, atopic 28.8 IFNG IGHE IL4 IL4R
18 q fever 28.7 IFNG IL4 TLR2
19 trypanosomiasis 28.7 IFNG IL4 TLR2
20 mycobacterium tuberculosis 1 28.7 IFNG IL4 TLR2
21 measles 28.7 IFNG IL4 TLR2
22 common variable immunodeficiency 28.6 IFNG IL4 TLR2
23 leptospirosis 28.6 IFNG TLR2
24 inflammatory bowel disease 28.4 IFNG IL4 STAT3 TLR2
25 malaria 28.4 HBA2 IFNG IL4 TLR2
26 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.8
27 his bundle tachycardia 12.4
28 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.4
29 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.2
30 immunodeficiency 35 11.8
31 alpha-thalassemia myelodysplasia syndrome 11.7
32 histidinemia 11.6
33 hyperinsulinemic hypoglycemia, familial, 6 11.6
34 ichthyosis, congenital, autosomal recessive 4b 11.4
35 hyperinsulinemic hypoglycemia, familial, 2 11.3
36 ocular motor apraxia 11.3
37 inherited metabolic disorder 11.3
38 leukocyte adhesion deficiency, type iii 11.2
39 progressive familial heart block, type ia 11.2
40 progressive familial heart block, type ib 11.2
41 arts syndrome 11.1
42 west syndrome 11.1
43 kniest dysplasia 11.1
44 renal glucosuria 11.1
45 sudden infant death syndrome 11.1
46 polyarteritis nodosa, childhood-onset 11.1
47 al-raqad syndrome 11.1
48 body dysmorphic disorder 11.1
49 obstructive nephropathy 11.1
50 lyme disease 11.1

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome
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Symptoms & Phenotypes for Hyper Ige Syndrome

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UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 DOCK8 IFNG IL4 IL4R STAT3 TLR2
2 hematopoietic system MP:0005397 9.97 DOCK8 IFNG IL4 IL4R PGM3 STAT3
3 immune system MP:0005387 9.92 DOCK8 IFNG IL4 IL4R PGM3 STAT3
4 digestive/alimentary MP:0005381 9.91 IFNG IL4 IL4R PGM3 STAT3 TLR2
5 endocrine/exocrine gland MP:0005379 9.88 IFNG IL4 IL4R PGM3 STAT3 TLR2
6 mortality/aging MP:0010768 9.76 HBA2 IFNG IL4 IL4R PGM3 STAT3
7 liver/biliary system MP:0005370 9.65 IFNG IL4 IL4R STAT3 TLR2
8 renal/urinary system MP:0005367 9.35 IFNG IL4 PGM3 STAT3 TLR2
9 respiratory system MP:0005388 9.02 IFNG IL4 IL4R STAT3 TLR2
Sources

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
2
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
3 Cytochrome P-450 Enzyme Inhibitors Phase 3
4 Hormones Phase 3
5 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
6 Steroid Synthesis Inhibitors Phase 3
7 Antiparasitic Agents Phase 3,Phase 2
8 Hormone Antagonists Phase 3
9 Antifungal Agents Phase 3,Phase 2
10 Antiprotozoal Agents Phase 3,Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
12
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
13
Histamine Approved, Investigational Phase 2 51-45-6 774
14
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
15
Sodium Citrate Approved, Investigational Phase 2 68-04-2
16
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
17 Immunologic Factors Phase 2
18 Antibodies Phase 2,Phase 1
19 Vaccines Phase 2
20 Agglutinins Phase 2
21 Immunoglobulins Phase 2,Phase 1
22 Liposomal amphotericin B Phase 2
23 Anti-Bacterial Agents Phase 2,Not Applicable
24 Autoantibodies Phase 2
25
Bismuth Phase 2 7440-69-9 16682734 105143
26 Antacids Phase 2
27 Gastrointestinal Agents Phase 2
28 Histamine Antagonists Phase 2
29 Bismuth tripotassium dicitrate Phase 2
30 Ranitidine bismuth citrate Phase 2
31 Citrate Phase 2
32 Histamine H2 Antagonists Phase 2
33 Anti-Ulcer Agents Phase 2
34 Neurotransmitter Agents Phase 2
35
Histamine Phosphate Phase 2 51-74-1 65513
36
Omalizumab Approved, Investigational Phase 1 242138-07-4
37 Anti-Allergic Agents Phase 1
38 Anti-Asthmatic Agents Phase 1
39 Respiratory System Agents Phase 1
40 Coagulase Not Applicable
41 Yellow Dock

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
4 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
10 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
11 Study of Mycobacterial Infections Recruiting NCT00018044
12 Human Immunity Against Staphylococcus Aureus Skin Infection Recruiting NCT02262819 Not Applicable S. aureus
13 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
14 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
15 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
16 Detection and Characterization of Infections and Infection Susceptibility Enrolling by invitation NCT00404560

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

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Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 30
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Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

42
Skin, Lung, T Cells, Bone, Bone Marrow, B Cells, Neutrophil
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Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50) (show all 280)
# Title Authors Year
1
Spectrum of pulmonary aspergillosis in Hyper IgE syndrome with autosomal dominant STAT3 deficiency. ( 30878710 )
2019
2
Hyper IgE Syndrome with Large Recurrent Head Abscesses Misdiagnosed as Folliculitis. ( 30896777 )
2019
3
Two Prenatal Cases of Hyper-IgE Syndrome. ( 30617622 )
2019
4
Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports. ( 30732127 )
2019
5
Lung disease in STAT3-Hyper-IgE-Syndrome requires intense therapy. ( 30793327 )
2019
6
Autosomal dominant Hyper IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: evidence from the Italian cohort of 61 patients with elevated IgE. ( 30797078 )
2019
7
Evaluation of the Role of <i>stat3</i> in Antibody and T<sub>H</sub>17-Mediated Responses to Pneumococcal Immunization and Infection by Use of a Mouse Model of Autosomal Dominant Hyper-IgE Syndrome. ( 29463618 )
2018
8
Esophageal Intramural Pseudodiverticulosis with Tracking in a Child with Autosomal Dominant Hyper-IgE Syndrome. ( 29746342 )
2018
9
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. ( 29907691 )
2018
10
Pulmonary Artery Pseudoaneurysm in Hyper-IgE Syndrome: Rare Complication With Successful Endovascular Management. ( 29552943 )
2018
11
Rapid Transition of Facial Features from Early to Mid - Adolescence in Autosomal Dominant Hyper IgE Syndrome with a STAT3 Variation. ( 29368105 )
2018
12
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. ( 29868029 )
2018
13
Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene. ( 29419892 )
2018
14
Autosomal-Recessive Hyper-IgE Syndrome. ( 29527033 )
2018
15
A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. ( 30186644 )
2018
16
TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome. ( 30035749 )
2018
17
Chronic rhinosinusitis with severe nasal polyposis in hyper-IgE syndrome. ( 30081087 )
2018
18
Human hyper-IgE syndrome: singular or plural? ( 30094507 )
2018
19
Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media. ( 30112673 )
2018
20
Phenotyping and long-term follow up of patients with hyper IgE syndrome. ( 30279075 )
2018
21
Selective loss of function variants in IL6ST cause Hyper-IgE Syndrome with distinct impairments of T cell phenotype and function. ( 30309848 )
2018
22
Eosinophilia and reduced STAT3 signaling affect neutrophil cell death in autosomal-dominant Hyper-IgE syndrome. ( 30315710 )
2018
23
Odontogenic deep neck space infection in a patient with hyper-IgE syndrome: A case report. ( 30386513 )
2018
24
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. ( 30425284 )
2018
25
Th9 immunodeficiency in Hyper IgE syndrome patients. ( 30439405 )
2018
26
Report of Massive Bleed after Chest-drain Insertion in a Case of Job's (hyper-IgE) Syndrome. ( 30443121 )
2018
27
An Unusual Presentation of Hip Pain in a Patient with Known Hyper-IgE Syndrome and Multiple Calcified Pelvic Apophyses. ( 30687673 )
2018
28
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. ( 28939137 )
2017
29
Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome. ( 29269803 )
2017
30
Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome. ( 28587312 )
2017
31
Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation. ( 28167354 )
2017
32
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity. ( 27844301 )
2017
33
Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome. ( 28203787 )
2017
34
Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review. ( 28197791 )
2017
35
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome. ( 28803389 )
2017
36
Acute cardiac disease in a patient with hyper-IgE syndrome. ( 28884991 )
2017
37
Functional Defects in Type 3 Innate Lymphoid Cells and Classical Monocytes in a Patient with Hyper-IgE Syndrome. ( 29093656 )
2017
38
Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin Positive S. aureus Mimic Hyper IgE Syndrome in an Infant. ( 28938255 )
2017
39
Cold-induced hyperhidrosis: possible association with hyper-IgE syndrome. ( 27778332 )
2017
40
Hyper IgE Syndrome and Renal Cell Carcinoma. ( 28607797 )
2017
41
Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient. ( 28562253 )
2017
42
Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report. ( 28902078 )
2017
43
Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome. ( 28643229 )
2017
44
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. ( 28315006 )
2017
45
Pediatric anaphylaxis and hyper IgE syndrome. ( 28280372 )
2017
46
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
47
B-cell-specific STAT3 deficiency: Insight into the molecular basis ofA autosomal-dominant hyper-IgE syndrome. ( 27423495 )
2016
48
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome. ( 27315770 )
2016
49
Hyper-IgE syndrome with a novel mutation of the STAT3 gene. ( 27333819 )
2016
50
Autosomal Dominant Hyper IgE Syndrome - Treatment Strategies and Clinical Outcomes. ( 26743515 )
2016
Sources

Variations for Hyper Ige Syndrome

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ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show top 50) (show all 340)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK8 NM_203447.3(DOCK8): c.4886+3A> G single nucleotide variant Benign rs2360712 GRCh37 Chromosome 9, 433978: 433978
2 DOCK8 NM_203447.3(DOCK8): c.4886+3A> G single nucleotide variant Benign rs2360712 GRCh38 Chromosome 9, 433978: 433978
3 DOCK8 NM_203447.3(DOCK8): c.5433G> A (p.Glu1811=) single nucleotide variant Benign rs1887957 GRCh38 Chromosome 9, 441952: 441952
4 DOCK8 NM_203447.3(DOCK8): c.5433G> A (p.Glu1811=) single nucleotide variant Benign rs1887957 GRCh37 Chromosome 9, 441952: 441952
5 DOCK8 NM_203447.3(DOCK8): c.404+16delT deletion Benign/Likely benign rs727505303 GRCh37 Chromosome 9, 289597: 289597
6 DOCK8 NM_203447.3(DOCK8): c.404+16delT deletion Benign/Likely benign rs727505303 GRCh38 Chromosome 9, 289597: 289597
7 DOCK8 NM_203447.3(DOCK8): c.1238A> G (p.Asn413Ser) single nucleotide variant Benign rs10970979 GRCh37 Chromosome 9, 334337: 334337
8 DOCK8 NM_203447.3(DOCK8): c.1238A> G (p.Asn413Ser) single nucleotide variant Benign rs10970979 GRCh38 Chromosome 9, 334337: 334337
9 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 GRCh38 Chromosome 9, 396836: 396836
10 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 GRCh37 Chromosome 9, 396836: 396836
11 DOCK8 NM_203447.3(DOCK8): c.4785+6C> G single nucleotide variant Benign rs7036567 GRCh37 Chromosome 9, 432330: 432330
12 DOCK8 NM_203447.3(DOCK8): c.4785+6C> G single nucleotide variant Benign rs7036567 GRCh38 Chromosome 9, 432330: 432330
13 DOCK8 NM_203447.3(DOCK8): c.5001C> T (p.His1667=) single nucleotide variant Benign/Likely benign rs35662752 GRCh37 Chromosome 9, 434897: 434897
14 DOCK8 NM_203447.3(DOCK8): c.5001C> T (p.His1667=) single nucleotide variant Benign/Likely benign rs35662752 GRCh38 Chromosome 9, 434897: 434897
15 DOCK8 NM_203447.3(DOCK8): c.289C> A (p.Pro97Thr) single nucleotide variant Benign rs529208 GRCh38 Chromosome 9, 286593: 286593
16 DOCK8 NM_203447.3(DOCK8): c.289C> A (p.Pro97Thr) single nucleotide variant Benign rs529208 GRCh37 Chromosome 9, 286593: 286593
17 DOCK8 NM_203447.3(DOCK8): c.709G> A (p.Glu237Lys) single nucleotide variant Benign/Likely benign rs11789099 GRCh37 Chromosome 9, 312134: 312134
18 DOCK8 NM_203447.3(DOCK8): c.709G> A (p.Glu237Lys) single nucleotide variant Benign/Likely benign rs11789099 GRCh38 Chromosome 9, 312134: 312134
19 DOCK8 NM_203447.3(DOCK8): c.4107C> G (p.Leu1369=) single nucleotide variant Benign rs2297079 GRCh38 Chromosome 9, 421032: 421032
20 DOCK8 NM_203447.3(DOCK8): c.4107C> G (p.Leu1369=) single nucleotide variant Benign rs2297079 GRCh37 Chromosome 9, 421032: 421032
21 STAT3 NM_139276.2(STAT3): c.1601-8dupT duplication Benign rs3830585 GRCh37 Chromosome 17, 40475651: 40475651
22 STAT3 NM_139276.2(STAT3): c.1601-8dupT duplication Benign rs3830585 GRCh38 Chromosome 17, 42323633: 42323633
23 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 GRCh38 Chromosome 9, 396872: 396872
24 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 GRCh37 Chromosome 9, 396872: 396872
25 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
26 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh38 Chromosome 17, 42322474: 42322474
27 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh37 Chromosome 17, 40475383: 40475383
28 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh38 Chromosome 17, 42323365: 42323365
29 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh37 Chromosome 6, 83898474: 83898474
30 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh38 Chromosome 6, 83188755: 83188755
31 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh37 Chromosome 6, 83880059: 83880059
32 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh38 Chromosome 6, 83170340: 83170340
33 DOCK8 NM_203447.3(DOCK8): c.1692T> C (p.Tyr564=) single nucleotide variant Benign rs10972587 GRCh37 Chromosome 9, 368030: 368030
34 DOCK8 NM_203447.3(DOCK8): c.1692T> C (p.Tyr564=) single nucleotide variant Benign rs10972587 GRCh38 Chromosome 9, 368030: 368030
35 DOCK8 NM_203447.3(DOCK8): c.1790C> T (p.Ala597Val) single nucleotide variant Benign/Likely benign rs17673268 GRCh37 Chromosome 9, 368128: 368128
36 DOCK8 NM_203447.3(DOCK8): c.1790C> T (p.Ala597Val) single nucleotide variant Benign/Likely benign rs17673268 GRCh38 Chromosome 9, 368128: 368128
37 DOCK8 NM_203447.3(DOCK8): c.1812A> G (p.Lys604=) single nucleotide variant Benign rs913703 GRCh37 Chromosome 9, 370244: 370244
38 DOCK8 NM_203447.3(DOCK8): c.1812A> G (p.Lys604=) single nucleotide variant Benign rs913703 GRCh38 Chromosome 9, 370244: 370244
39 DOCK8 NM_203447.3(DOCK8): c.2295C> T (p.Ser765=) single nucleotide variant Benign/Likely benign rs12348944 GRCh37 Chromosome 9, 377066: 377066
40 DOCK8 NM_203447.3(DOCK8): c.2295C> T (p.Ser765=) single nucleotide variant Benign/Likely benign rs12348944 GRCh38 Chromosome 9, 377066: 377066
41 DOCK8 NM_203447.3(DOCK8): c.2340G> C (p.Leu780=) single nucleotide variant Benign rs10814431 GRCh37 Chromosome 9, 377111: 377111
42 DOCK8 NM_203447.3(DOCK8): c.2340G> C (p.Leu780=) single nucleotide variant Benign rs10814431 GRCh38 Chromosome 9, 377111: 377111
43 DOCK8 NM_203447.3(DOCK8): c.2916C> T (p.Thr972=) single nucleotide variant Benign rs2297075 GRCh37 Chromosome 9, 390512: 390512
44 DOCK8 NM_203447.3(DOCK8): c.2916C> T (p.Thr972=) single nucleotide variant Benign rs2297075 GRCh38 Chromosome 9, 390512: 390512
45 DOCK8 NM_203447.3(DOCK8): c.3021T> C (p.Phe1007=) single nucleotide variant Benign/Likely benign rs7034926 GRCh37 Chromosome 9, 396835: 396835
46 DOCK8 NM_203447.3(DOCK8): c.3021T> C (p.Phe1007=) single nucleotide variant Benign/Likely benign rs7034926 GRCh38 Chromosome 9, 396835: 396835
47 DOCK8 NM_203447.3(DOCK8): c.3208A> G (p.Asn1070Asp) single nucleotide variant Benign/Likely benign rs73382631 GRCh37 Chromosome 9, 399233: 399233
48 DOCK8 NM_203447.3(DOCK8): c.3208A> G (p.Asn1070Asp) single nucleotide variant Benign/Likely benign rs73382631 GRCh38 Chromosome 9, 399233: 399233
49 DOCK8 NM_203447.3(DOCK8): c.3230G> A (p.Ser1077Asn) single nucleotide variant Benign/Likely benign rs34627722 GRCh37 Chromosome 9, 399255: 399255
50 DOCK8 NM_203447.3(DOCK8): c.3230G> A (p.Ser1077Asn) single nucleotide variant Benign/Likely benign rs34627722 GRCh38 Chromosome 9, 399255: 399255
Sources

Expression for Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.
Sources

Pathways for Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.83 IFNG IGHE IL4 IL4R STAT3 TLR2
2
Cytokine Signaling in Immune system 67
Show member pathways
 13.16 IFNG IGHE IL4 IL4R STAT3 TYK2
3
IL-2 Pathway 65
Show member pathways
 13 IFNG IL4 IL4R STAT3 TLR2
4
p70S6K Signaling 65
Show member pathways
 12.87 IL4 IL4R STAT3 TYK2
5
PI3K-Akt signaling pathway 38
Show member pathways
 12.81 IL4 IL4R TLR2 TYK2
6
Pathways in cancer 38
12.66 IFNG IL4 IL4R STAT3
7
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 66
Show member pathways
 12.58 IL4 IL4R STAT3 TYK2
8
Immune response NFAT in immune response 23
Show member pathways
 12.45 IFNG IGHE IL4 IL4R
9
Influenza A 38
Show member pathways
 12.39 IFNG IL4 STAT3 TLR2 TYK2
10
NF-kappaB Signaling 4
12.32 IFNG IL4 STAT3 TLR2 TYK2
11
IL-17 Family Signaling Pathways 66
Show member pathways
 12.19 IFNG IL4 STAT3 TLR2
12
CNTF Signaling 65
Show member pathways
 12.17 STAT3 TLR2 TYK2
13
Type I Interferon Signaling Pathways 66
Show member pathways
 12.14 IFNG STAT3 TYK2
14
JAK-STAT signaling pathway (KEGG) 66
Show member pathways
 12.09 IFNG IL4 IL4R STAT3 TYK2
15
Necroptosis 38
Show member pathways
 12.05 IFNG STAT3 TYK2
16
Development IGF-1 receptor signaling 23
Show member pathways
 12.04 IGHE IL4 IL4R STAT3 TYK2
17
Bacterial infections in CF airways 23
Show member pathways
 12.02 IFNG IL4 TLR2
18
Colorectal Cancer Metastasis 65
12.02 IFNG STAT3 TLR2
19
Th17 cell differentiation 38
Show member pathways
 11.97 IFNG IL4 IL4R STAT3 TLR2 TYK2
20
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.9 IFNG IL4 IL4R STAT3
21
Microglia Activation During Neuroinflammation: Overview 66
Show member pathways
 11.87 IFNG IL4 TLR2
22
Th1 Differentiation Pathway 66
Show member pathways
 11.87 IFNG STAT3 TLR2 TYK2
23
Toxoplasmosis 38
Show member pathways
 11.83 IFNG IL4 STAT3 TLR2 TYK2
24
IL12-mediated signaling events 1
Show member pathways
 11.72 IFNG IL4 STAT3 TYK2
25
Jak-Stat Signaling Pathway (sino) 68
11.68 IFNG IL4R STAT3 TYK2
26
IL4-mediated signaling events 1
11.54 IGHE IL4 IL4R
27
Interleukin-10 signaling 67
11.41 IL4 STAT3 TYK2
28
Malaria 38
11.4 HBA2 IFNG TLR2
29
MSP-RON Signaling 65
11.37 IFNG TLR2
30
Th2 Differentiation Pathway 66
11.36 IFNG IL4 IL4R
31
Interleukin-11 Signaling Pathway 1
11.33 STAT3 TYK2
32
Jak/STAT Signaling Pathway Intracellular Regulation 66
11.28 STAT3 TYK2
33
Type III Interferon Signaling Pathways 66
Show member pathways
 11.27 STAT3 TYK2
34
African trypanosomiasis 38
11.24 HBA2 IFNG
35
IL-10 Pathway 65
11.21 STAT3 TYK2
36
Inflammatory Response Pathway 1
11.19 IFNG IL4 IL4R
37
Development and heterogeneity of the ILC family 1
11.17 IFNG IL4
38
Cytokines and Inflammatory Response 1
11.12 IFNG IL4
39
Immune response_IL-12 signaling pathway 23
Show member pathways
 11.12 IFNG STAT3 TYK2
40
IL12 signaling mediated by STAT4 1
11.1 IFNG STAT3
41
Interleukin-4 and 13 signaling 67
11.08 IGHE IL4 IL4R STAT3 TYK2
42
OX40 Pathway 65
11.06 IFNG IL4
43
IL1 and megakaryocytes in obesity 1
11.04 IFNG TLR2
44
Immune response_Oncostatin M signaling via JAK-Stat in human cells 23
10.89 STAT3 TYK2
Sources

GO Terms for Hyper Ige Syndrome

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Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.67 IFNG IL4 STAT3 TLR2
2 interleukin-12-mediated signaling pathway GO:0035722 9.43 IFNG TYK2
3 positive regulation of interleukin-12 production GO:0032735 9.4 IFNG TLR2
4 immune response GO:0006955 9.35 IFNG IGHE IL4 IL4R TLR2
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 IFNG IL4 STAT3
6 interleukin-27-mediated signaling pathway GO:0070106 9.32 STAT3 TYK2
7 interleukin-23-mediated signaling pathway GO:0038155 9.26 STAT3 TYK2
8 cytokine-mediated signaling pathway GO:0019221 9.02 IGHE IL4 IL4R STAT3 TYK2
Sources

Sources for Hyper Ige Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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